Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center
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Title
Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center
Authors
Keywords
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Journal
Frontiers in Neurology
Volume 11, Issue -, Pages -
Publisher
Frontiers Media SA
Online
2020-09-15
DOI
10.3389/fneur.2020.01014
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Note: Only part of the references are listed.- Clinical and pathological characterization of FLNC ‐related myofibrillar myopathy caused by founder variant c.8129G>A in Hong Kong Chinese
- (2020) Han‐Chih Hencher Lee et al. CLINICAL GENETICS
- A novel phenotype with splicing mutation identified in a Chinese family with desminopathy
- (2019) Peng Fan et al. CHINESE MEDICAL JOURNAL
- Expanding the importance of HMERF titinopathy: new mutations and clinical aspects
- (2019) Johanna Palmio et al. JOURNAL OF NEUROLOGY
- A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family
- (2019) Keze Ma et al. Molecular Genetics & Genomic Medicine
- Congenital titinopathy: Comprehensive characterisation and pathogenic insights
- (2018) Emily C. Oates et al. ANNALS OF NEUROLOGY
- A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family
- (2018) Jing Miao et al. BMC Neurology
- Exploring the multifaceted roles of heat shock protein B8 (HSPB8) in diseases
- (2018) Fazhao Li et al. EUROPEAN JOURNAL OF CELL BIOLOGY
- De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy
- (2018) Artem Kiselev et al. HUMAN MUTATION
- creat229 th ENMC international workshop: Limb girdle muscular dystrophies – nomenclature and reformed classification, 17-19 March 2017, Naarden, The Netherlands
- (2018) Volker Straub et al. NEUROMUSCULAR DISORDERS
- Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough
- (2018) Giorgio Tasca et al. NEUROMUSCULAR DISORDERS
- Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
- (2018) Marco Savarese et al. JAMA Neurology
- BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot–Marie–Tooth disease
- (2018) Seung Ju Kim et al. Genes & Genomics
- Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement
- (2017) Jean-Baptiste Noury et al. MUSCLE & NERVE
- Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases
- (2017) Priya S. Dhawan et al. MUSCLE & NERVE
- A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy
- (2017) Daniela Rossi et al. PLoS One
- Filamin actin-binding and titin-binding fulfill distinct functions in Z-disc cohesion
- (2017) Nicanor González-Morales et al. PLoS Genetics
- New aspects of myofibrillar myopathies
- (2016) Rudolf A. Kley et al. CURRENT OPINION IN NEUROLOGY
- Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J
- (2015) Wen Zheng et al. MOLECULAR NEUROBIOLOGY
- A new titinopathy
- (2015) Rafael De Cid et al. NEUROLOGY
- Mutations inHSPB8causing a new phenotype of distal myopathy and motor neuropathy
- (2015) Roula Ghaoui et al. NEUROLOGY
- New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure
- (2015) Dongyue Yue et al. NEUROMUSCULAR DISORDERS
- Severe congenital actin related myopathy with myofibrillar myopathy features
- (2015) Duygu Selcen NEUROMUSCULAR DISORDERS
- Atypical phenotypes in titinopathies explained by second titin mutations
- (2014) Anni Evilä et al. ANNALS OF NEUROLOGY
- Disruption of both nesprin 1 and desmin results in nuclear anchorage defects and fibrosis in skeletal muscle
- (2014) Mark A. Chapman et al. HUMAN MOLECULAR GENETICS
- Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy
- (2014) Xiaoyan Lin et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure
- (2014) Akinori Uruha et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins
- (2013) Camilo Toro et al. BMC Neurology
- Hereditary myopathy with early respiratory failure: occurrence in various populations
- (2013) J. Palmio et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
- (2013) G. Pfeffer et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
- (2013) O. Ceyhan-Birsoy et al. NEUROLOGY
- Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
- (2012) Monica Ohlsson et al. BRAIN
- Titin mutation segregates with hereditary myopathy with early respiratory failure
- (2012) Gerald Pfeffer et al. BRAIN
- Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia
- (2012) Giorgio Tasca et al. MUSCLE & NERVE
- Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
- (2012) Jaakko Sarparanta et al. NATURE GENETICS
- Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy
- (2011) Rachael M. Duff et al. AMERICAN JOURNAL OF HUMAN GENETICS
- BAG3-related myofibrillar myopathy in a Chinese family
- (2011) HC Lee et al. CLINICAL GENETICS
- BAG3 mediates chaperone-based aggresome-targeting and selective autophagy of misfolded proteins
- (2011) Martin Gamerdinger et al. EMBO REPORTS
- Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
- (2011) V. Guergueltcheva et al. NEUROLOGY
- BAG3 Directly Interacts with Mutated alphaB-Crystallin to Suppress Its Aggregation and Toxicity
- (2011) Akinori Hishiya et al. PLoS One
- The stress-inducible HspB8-Bag3 complex induces the eIF2α kinase pathway: Implications for protein quality control and viral factory degradation?
- (2009) Serena Carra Autophagy
- Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1
- (2009) Joachim Schessl et al. BRAIN
- Mutation in BAG3 causes severe dominant childhood muscular dystrophy
- (2008) Duygu Selcen et al. ANNALS OF NEUROLOGY
- In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
- (2008) Alexey Shatunov et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- An FHL1-containing complex within the cardiomyocyte sarcomere mediates hypertrophic biomechanical stress responses in mice
- (2008) Farah Sheikh et al. JOURNAL OF CLINICAL INVESTIGATION
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